Scleroderma Facts. The Scleroderma Foundation is here to help!
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1 Scleroderma Facts Scleroderma is an autoimmune disease whose symptoms typically include some or all of the following: sensitivity to cold in extremities, thickening of the skin, shortness of breath, difficulty swallowing, joint stiffness and pain, and damage to internal organs. Autoimmune diseases, which affect more than 50 million Americans, are the third leading cause of death in the United States. 300,000 cases of scleroderma are estimated in the United States. 80% of scleroderma patients are female. Scleroderma typically strikes between the ages of 25 and % of scleroderma cases begin with Raynaud Phenomenon (hands and feet abnormally sensitive to cold.) Federal research funding for scleroderma lags behind other diseases of similar prevalence. Misdiagnosis is common. It can take three years or more for an individual to be diagnosed and receive appropriate treatment, often due to lack of familiarity with the disease among medical professionals. The Scleroderma Foundation is here to help! The Scleroderma Foundation is a 501(c)(3) national non-profit organization serving the interests of persons with scleroderma. The Foundation s 22 Chapters and more than 145 Support Groups nationwide help carry out its three-fold mission of support, education, and research. The Scleroderma Foundation is the leading non-profit support of scleroderma research. The Scleroderma Foundation has granted over $18.6 million in research grants since 1989 and continues to budget an average of $1 million annually for peer reviewed research funding -our single largest budgeted expense. 300 Rosewood Drive, Suite 105, Danvers MA Bus: Fax: HOPE
2 SCLERODERMA: Overview and Causes
3 SCLERODERMA OVERVIEW Introduction Scleroderma is an autoimmune disease which means that it is a condition in which the body s immune to distinguish foreign from self is compromised. As immune cells attack the body s own tissue, inflammation and damage result. Scleroderma (the name can be life-threatening. Although there are medications to slow down disease progression and help with symptoms, right now there is no cure for scleroderma. TYPES OF SCLERODERMA organs or internal systems of the body as well as the skin, and localized that affects a local area of skin either systemic form. SYSTEMIC SCLEROSIS (SSc) types of systemic sclerosis or SSc: limited cutaneous limited cutaneous and diffuse cutaneous SSc is the forearms, the upper arms, thighs, or trunk are affected. of making the distinction between limited and diffuse Scleroderma sine sclerosis refers to the unusual skin thickening.
4 cutaneous SSc. Raynaud phenomenon, for example, occurs in both. Raynaud phenomenon is a condition in which the fingers turn pale or blue upon cold exposure, and then become ruddy or red upon warming up. fingertips. Raynaud phenomenon occurs in almost all and painful finger ulcers can also be seen in both forms. back up into the esophagus, causing heartburn. unpleasing, particularly if they occur on the face. Some and bowel that can be a source of bleeding. People with the diffuse form of SSc are at a greater risk that interferes with breathing, also called interstitial pulmonary fibrosis. Symptoms of pulmonary disease in the early stages there may not be any symptoms at all. diffuse than in the limited form of SSc, especially in the form of a sudden increase in blood pressure. As is the case with usual high blood pressure, there are untreated, this high blood pressure can damage the kidneys in a matter of weeks, which is why it is called detection and treatment with ACE inhibitors.
5 is higher in those with diffuse rather than limited SSc. Symptoms include feeling bloated after eating, diarrhea, or alternating diarrhea and constipation. Calcinosis refers to the presence of calcium deposits nodules or lumps that tend to occur on the fingers or calcium deposits can sometimes break out to the skin of the usual blood pressure that is taken in the arm. an echocardiogram, is abnormal, then a right heart catheterization needs to be done to actually measure better the result will be. LOCALIZED SCLERODERMA Morphea Morphea consists of patches of thickened skin that surrounding skin and thus tend to stand out. Also there is usually a loss of the fatty layer underneath the morphea spots. Morphea, as well as the other forms of localized scleroderma, does not affect internal organs. Linear scleroderma Linear scleroderma consists of a line of thickened skin the skin can be lost, so the affected limb is thinner than
6 or leg can be shorter than the other. Scleroderma en coup de sabre Scleroderma en coup de sabre is a form of linear scleroderma in which the line of skin thickening growing children, both linear scleroderma and en coup de sabre can result in distortion of the growing limb or lack of symmetry of both sides of the face. WHAT CAUSES SCLERODERMA? we do understand a great deal about the biological sclerosis, there are three processes at work: blood autoimmunity. responsible for Raynaud phenomenon and the painful damage also occurs in the internal organs and is narrow in order to maintain central body warmth. method of relaxation, becoming prone to episodes of cold temperatures and other stimuli like emotional stress, which results in Raynaud attacks. component of scar tissue. Abnormal accumulation of collagen is called fibrosis. Collagen is a normal part
7 the balance of collagen formation and collagen breakdown is altered so that too much collagen builds up. fibrosis in the heart, lungs, and the muscles that line Collagen is made by fibroblasts (a type of cell that is normal circumstances, the production of a scar is the for example, the production of a scar following immune system to produce collagen as part of the scar causes tissue damage, decreased flexibility, and immune system resulting in an immune attack on the body s own tissues. Some of these autoantibodies are are specific for a particular disease. is to find antibodies (proteins made by immune cells, specific set of autoantibodies is found in scleroderma. of the scleroderma disease process because they is not clear what role these autoantibodies play in WHO GETS SCLERODERMA? has been suggested by the fact that SSc is more common among patients whose family members
8 Caucasians. factors may trigger the disease in the susceptible host. For example, silica exposure (as in coal mining scleroderma and certain drugs can cause sclerodermalike reactions. Localized scleroderma is more common in children, whereas SSc is more common in adults. PUTTING IT ALL TOGETHER Research suggests that the susceptible host for scleroderma is someone with a genetic predisposition so it becomes chronic. Collagen made in excess interferes with normal organ function, sometimes Research continues to assemble the pieces of the scleroderma puzzle to identify the susceptibility genes, fibrosis, and to interrupt the networks that perpetuate the disease. The Scleroderma Foundation thanks Maureen Mayes, M.D., M.P.H., University of Texas/Houston and John Varga, M.D., Northwestern University, for their assistance in the preparation of this brochure.
9 Our Three-Fold Mission Is Support, Education and Research A publication of Scleroderma Foundation
10 The Member Magazine of the Scleroderma Foundation National Patient Education Conference Rewind San Francisco Scleroderma VOICE Challenges for Kids with Scleroderma Ernie Ross Racing to Victory Fall
11
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